ClinVar Miner

List of variants in gene TJP2 reported as likely pathogenic for autosomal dominant nonsyndromic hearing loss 51

Included ClinVar conditions (1):

Autosomal dominant nonsyndromic hearing loss 51

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	rs138241615	0.00168
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val)	rs146761713	0.00028

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